Rezultati - Lupski, James R.

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  1. 1
    Axonal Charcot-Marie-Tooth Disease and the Neurofilament Light Gene (NF-L)

    Axonal Charcot-Marie-Tooth Disease and the Neurofilament Light Gene (NF-L) od Lupski, James R.

    Izdano 2000
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  2. 2
    Allan Award Introduction: Arthur L. Beaudet

    Allan Award Introduction: Arthur L. Beaudet od Lupski, James R.

    Izdano 2008
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  3. 3
    Genomic disorders ten years on

    Genomic disorders ten years on od Lupski, James R

    Izdano 2009
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  4. 4
    Genomic Disorders: Recombination-Based Disease Resulting from Genome Architecture

    Genomic Disorders: Recombination-Based Disease Resulting from Genome Architecture od Lupski, James R.

    Izdano 2003
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  5. 5
    Cognitive Phenotypes and Genomic Copy Number Variations

    Cognitive Phenotypes and Genomic Copy Number Variations od Lupski, James R.

    Izdano 2015
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  6. 6
    Hotspots of homologous recombination in the human genome: not all homologous sequences are equal

    Hotspots of homologous recombination in the human genome: not all homologous sequences are equal od Lupski, James R

    Izdano 2004
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  7. 7
    2018 Victor A. McKusick Leadership Award: Molecular Mechanisms for Genomic and Chromosomal Rearrangements

    2018 Victor A. McKusick Leadership Award: Molecular Mechanisms for Genomic and Chromosomal Rearrangements od Lupski, James R.

    Izdano 2019
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  8. 8
    Clan Genomics: from OMIM phenotypic traits to genes and biology

    Clan Genomics: from OMIM phenotypic traits to genes and biology od Lupski, James R.

    Izdano 2021
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  9. 9
    Biology in balance: human diploid genome integrity, gene dosage, and genomic medicine

    Biology in balance: human diploid genome integrity, gene dosage, and genomic medicine od Lupski, James R.

    Izdano 2022
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  10. 10
    Genomic Disorders: Molecular Mechanisms for Rearrangements and Conveyed Phenotypes

    Genomic Disorders: Molecular Mechanisms for Rearrangements and Conveyed Phenotypes od Lupski, James R, Stankiewicz, Pawel

    Izdano 2005
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  11. 11
    Charcot–Marie–Tooth disease

    Charcot–Marie–Tooth disease od Szigeti, Kinga, Lupski, James R

    Izdano 2009
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  12. 12
    Non-coding genetic variants in human disease

    Non-coding genetic variants in human disease od Zhang, Feng, Lupski, James R.

    Izdano 2015
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  13. 13
    From genes to genomes in the clinic

    From genes to genomes in the clinic od Veltman, Joris A., Lupski, James R.

    Izdano 2015
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  14. 14
    Penetrance of Craniofacial Anomalies in Mouse Models of Smith-Magenis Syndrome Is Modified by Genomic Sequence Surrounding Rai1: Not All Null Alleles Are Alike

    Penetrance of Craniofacial Anomalies in Mouse Models of Smith-Magenis Syndrome Is Modified by Genomic Sequence Surrounding Rai1: Not All Null Alleles Are Alike od Yan, Jiong, Bi, Weimin, Lupski, James R.

    Izdano 2007
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  15. 15
    Copy number variation at the breakpoint region of isochromosome 17q

    Copy number variation at the breakpoint region of isochromosome 17q od Carvalho, Claudia M.B., Lupski, James R.

    Izdano 2008
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  16. 16
    Mechanisms for human genomic rearrangements

    Mechanisms for human genomic rearrangements od Gu, Wenli, Zhang, Feng, Lupski, James R

    Izdano 2008
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  17. 17
    Personal genome research: what should the participant be told?

    Personal genome research: what should the participant be told? od McGuire, Amy L., Lupski, James R.

    Izdano 2010
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  18. 18
    A functional role for structural variation in metabolism

    A functional role for structural variation in metabolism od Lacaria, Melanie, Gu, Wenli, Lupski, James R.

    Izdano 2013
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  19. 19
    Circadian Abnormalities in Mouse Models of Smith–Magenis Syndrome: Evidence for Involvement of RAI1

    Circadian Abnormalities in Mouse Models of Smith–Magenis Syndrome: Evidence for Involvement of RAI1 od Lacaria, Melanie, Gu, Wenli, Lupski, James R

    Izdano 2013
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  20. 20
    Mechanisms underlying structural variant formation in genomic disorders

    Mechanisms underlying structural variant formation in genomic disorders od Carvalho, Claudia M. B., Lupski, James R.

    Izdano 2016
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